Narcolepsy Diagnosis

[swreeder70]

My son, Mason has been dealing with Dysautonomia now for almost 6 years with virtually no progress made since his diagnosis. He was Diagnosed at the age of 10 with Dysautonomia POTS and has been on every drug therapy and protocol since, with no positive results along the way.

We recently moved across the country and started all over again with a new team of Doctors. New treatments, new rounds of testing along the way with no real changes in his condition. One of the Dr's recommended a sleep study. So reluctantly we agreed, other than insomnia we didn't really see what a sleep study would do.

It turns out Mason is now diagnosed with a severe case of Narcolepsy. This came as a total surprise to us. Mason never takes naps, is up half the night in many cases and doesn't exhibit what I thought were the symptoms of Narcolepsy...ie falling asleep all the time. He never complains of sleepiness, to me he exhibits more insomnia symptoms.

However, from what we are learning, many of the symptoms he has show for years; brain fog, fatigue, muscle weakness; dizziness, loss of vision, low BP, etc. etc are also symptoms of Narcolepsy. Very similar symptoms to Dysautonomia.

Just wondering if anyone else out there is diagnosed with Narcolepsy. We are wondering if we have been mis-diagnosed all along and fighting the wrong battle or if this is just another thing on top of Dysautonomia.

The recommend treatment protocol is Provigil in the AM and Xyrem at night, but before we go off on another approach we are trying to learn as much as possible.

[rockenmamaof5]

My son, Mason has been dealing with Dysautonomia now for almost 6 years with virtually no progress made since his diagnosis. He was Diagnosed at the age of 10 with Dysautonomia POTS and has been on every drug therapy and protocol since, with no positive results along the way.

We recently moved across the country and started all over again with a new team of Doctors. New treatments, new rounds of testing along the way with no real changes in his condition. One of the Dr's recommended a sleep study. So reluctantly we agreed, other than insomnia we didn't really see what a sleep study would do.

It turns out Mason is now diagnosed with a severe case of Narcolepsy. This came as a total surprise to us. Mason never takes naps, is up half the night in many cases and doesn't exhibit what I thought were the symptoms of Narcolepsy...ie falling asleep all the time. He never complains of sleepiness, to me he exhibits more insomnia symptoms.

However, from what we are learning, many of the symptoms he has show for years; brain fog, fatigue, muscle weakness; dizziness, loss of vision, low BPI , etc. etc are also symptoms of Narcolepsy. Very similar symptoms to Dysautonomia.

Just wondering if anyone else out there is diagnosed with Narcolepsy. We are wondering if we have been mis-diagnosed all along and fighting the wrong battle or if this is just another thing on top of Dysautonomia.

The recommend treatment protocol is Provigil in the AM and Xyrem at night, but before we go off on another approach we are trying to learn as much as possible.

I haven't been diagnosed with it "yet" though my Sleep neurologist says I maybe in the future. The one thing that my body didn't do was go into REM during my day time sleep study which is the only thing that is keeping me from the diagnosis. For now it's just hypersomnia. Anyway I'm sorry your son is going through all of this. Just an FYI you might want to ask about if Nuvigil is something your son could take. It's the second version of Provigil. I had to try the Provigil first and it didn't do much for me at all. Well It might have if my insurance company would approve 2 tablets instead of one. Also I think the side effects are worse with it. Just thought I'd mention it. Hope this helps your son!

Pam

[swreeder70]

Thanks

My son, Mason has been dealing with Dysautonomia now for almost 6 years with virtually no progress made since his diagnosis. He was Diagnosed at the age of 10 with Dysautonomia POTS and has been on every drug therapy and protocol since, with no positive results along the way.

We recently moved across the country and started all over again with a new team of Doctors. New treatments, new rounds of testing along the way with no real changes in his condition. One of the Dr's recommended a sleep study. So reluctantly we agreed, other than insomnia we didn't really see what a sleep study would do.

It turns out Mason is now diagnosed with a severe case of Narcolepsy. This came as a total surprise to us. Mason never takes naps, is up half the night in many cases and doesn't exhibit what I thought were the symptoms of Narcolepsy...ie falling asleep all the time. He never complains of sleepiness, to me he exhibits more insomnia symptoms.

However, from what we are learning, many of the symptoms he has show for years; brain fog, fatigue, muscle weakness; dizziness, loss of vision, low BPI , etc. etc are also symptoms of Narcolepsy. Very similar symptoms to Dysautonomia.

Just wondering if anyone else out there is diagnosed with Narcolepsy. We are wondering if we have been mis-diagnosed all along and fighting the wrong battle or if this is just another thing on top of Dysautonomia.

The recommend treatment protocol is Provigil in the AM and Xyrem at night, but before we go off on another approach we are trying to learn as much as possible.

I haven't been diagnosed with it "yet" though my Sleep neurologist says I maybe in the future. The one thing that my body didn't do was go into REM during my day time sleep study which is the only thing that is keeping me from the diagnosis. For now it's just hypersomnia. Anyway I'm sorry your son is going through all of this. Just an FYI you might want to ask about if Nuvigil is something your son could take. It's the second version of Provigil. I had to try the Provigil first and it didn't do much for me at all. Well It might have if my insurance company would approve 2 tablets instead of one. Also I think the side effects are worse with it. Just thought I'd mention it. Hope this helps your son!

Pam

Thanks Pam,

Mason at one point was on Nuvigil as part of one of his treatment protocols. He had no improvement and suffered from all the side effects and was pulled off of it. So, we are going with the Dr's recommendation here at Provigil with Xyrem (which is near impossible to get!)

Masons sleep study he went into REM sleep during the nap sessions very fast, hence the diagnosis of Narcolepsy.

Just hate the though of putting him on these Narcotics long term.

[Katybug]

Hi there! I, too, am diagnosed with severe daytime hypersomnia as I didn't go into REM during the daytime sleep study. But I do have enough off the symptoms that the docs were surprised that I didn't have it. I experience mild cataplexy when I am tired during the day(I say mild because I've never actually fallen down but I usually don't wait long enough to find out if I will eventually fall). I also become ice cold and the only thing that will allow me to warm up is sleeping for a few hours.

Also, narcolepsy and daytime hypersomnia seem to be more common (from my observation, no science here as far as I know) in the Ehlers Danlos community. I don't know anyone in my "normal" life with narcolepsy or hypersomnia but there are quite a few narcoleptics, etc. on the EDS forum I belong to. I was shocked to actually see all the responses to posts on this subject. Is it possible that Mason should be evaluated for EDS? Here is a website that gives good information on EDS. They also have a Forum that you may want to search for info on narcolepsy. http://www.ednf.org/

[rockenmamaof5]

Hi there! I, too, am diagnosed with severe daytime hypersomnia as I didn't go into REM during the daytime sleep study. But I do have enough off the symptoms that the docs were surprised that I didn't have it. I experience mild cataplexy when I am tired during the day(I say mild because I've never actually fallen down but I usually don't wait long enough to find out if I will eventually fall). I also become ice cold and the only thing that will allow me to warm up is sleeping for a few hours.

Also, narcolepsy and daytime hypersomnia seem to be more common (from my observation, no science here as far as I know) in the Ehlers Danlos community. I don't know anyone in my "normal" life with narcolepsy or hypersomnia but there are quite a few narcoleptics, etc. on the EDS forum I belong to. I was shocked to actually see all the responses to posts on this subject. Is it possible that Mason should be evaluated for EDS? Here is a website that gives good information on EDS. They also have a Forum that you may want to search for info on narcolepsy. http://www.ednf.org/

It's "funny" that you mentioned that, I was going to ask you about EDC. I have very hypermobile joints and at one point when I took my daughter to a rheumatologists when she was very young and having problems with joint pain they mentioned EDC because she had several physical signs (so do I) like small jaw high palate and hypermobile joints. What type of testing is there for this? I only ask because I have other stuff that's been going on and had also gone the rheumatologist route (claw toes, lots of stuff going on in my hands as well) and they did a ana test done and a myositis/Jo1ab test done and all were negative.

Thanks,

Pam

[rockenmamaof5]

Sorry to hear it didn't work! I totally understand about not wanting your son to have to be on narcotics long term! I hope it helps him!

[Katybug]

Hi Pam,

There are several forms of EDS. There are genetic tests for 2 of the 3 common forms, classic and vascular. The vascular genetic test is more accurate than the classical and you can still have classical without the test showing that specific gene mutation. The Hypermobile type is a clinical diagnosis as they have not isolated the gene/s that cause it. The other types are very rare and mostly diagnosed during infancy. There can also be crossover between the 3 common types. If you suspect EDS, I strongly suggest you take a look at the www.ednf.org website. It gives lists of symptoms for each type and how each type is diagnosed. Their forum is also very good at giving doctors suggestions for diagnosis (Unless you're near Baltimore, then I can give you names.)

[rockenmamaof5]

Hi Pam,

There are several forms of EDS. There are genetic tests for 2 of the 3 common forms, classic and vascular. The vascular genetic test is more accurate than the classical and you can still have classical without the test showing that specific gene mutation. The Hypermobile type is a clinical diagnosis as they have not isolated the gene/s that cause it. The other types are very rare and mostly diagnosed during infancy. There can also be crossover between the 3 common types. If you suspect EDS, I strongly suggest you take a look at the www.ednf.org website. It gives lists of symptoms for each type and how each type is diagnosed. Their forum is also very good at giving doctors suggestions for diagnosis (Unless you're near Baltimore, then I can give you names.)

Thanks Katy! I highly suspect this as t have a lot of the symptoms. I had suspected for awhile that I may have a connective tissue disease and my Doctor was the one to encourage going to see a Rheumatologist. My PCP and Neurologist are getting things together to send to John Hopkins as they would like me to be seen there. I see my Neurologist in a few weeks and even if it's not her specialty, will mention the EDS. There is a strong family history of hypermobile joints as well as dislocations among other things.If anything she may put it in my file as a possibility and something to look into when I'm at JH.

Thanks again!

Pam

[swreeder70]

Also we just learned that EDS is Excessive Daytime Sleepiness in the Narcolepsy world. So make sure what EDS you are referring to when speaking with Dr's.